Module 07: Proteins & aminoacids (II)

Protein and ammino acid metabolism is the object of two modules (Modules 6 and 7). Module 7 has a particular focus on the clinical conditions associated with deficits in this important metabolic pathway. Specifically, Glutaric aciduria type 1 and tyrosinemia type I are described. Glutaric aciduria type 1 (GA1), a defect of lysine metabolism, is an example of a “cerebral” organic aciduria in which decompensation leads towards severe irreversible dystonia. The importance of early diagnosis, dietary treatment and late-onset complications is highlighted. Tyrosinemia type I is a defect of the metabolism of tyrosine, the precursor of catecholamines, melanin and other substances. The therapy with Nitisinone (NTBC) has completely changed the outcome of this disease representing a role model of how metabolic diseases can be successfully treated.

Authors: Nikolas Boy, Bianca Dimitrov, Stefan Kölker, Anibh Martin Das

Accreditation: 1 European CME Credits (ECMEC®s) will be assigned after attending all the lessons and achieving the passmark of 70 % in all the self-assessment sessions.